| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Delayed speech and language development
Gait difficulties Muscular hypotonia Abnormal central motor function Cognitive impairment Global developmental delay Intellectual developmental disorder Developmental delay/intellectual disability Seizures Spasticity Bradykinesia Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
No
|
Global developmental delay
Cognitive impairment Intellectual developmental disorder Gait difficulties Delayed speech and language development Developmental delay/intellectual disability Bradykinesia Muscular hypotonia Autonomic sign/sympt. Microcephaly Seizures Spasticity Abnormal central motor function Show more (+10) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
n.a.
|
5
|
n.a.
|
Cognitive impairment
Seizures Abnormal central motor function Developmental delay/intellectual disability Bradykinesia Muscular hypotonia Gait difficulties Intellectual developmental disorder Delayed speech and language development Spasticity Global developmental delay Autonomic sign/sympt. Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
21
|
No
|
Developmental delay/intellectual disability
Gait difficulties Dystonia (any or unspecified) Abnormal central motor function Cognitive impairment Spasticity Muscular hypotonia Intellectual developmental disorder Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
7
|
n.a.
|
Dystonia (any or unspecified)
Cognitive impairment Spasticity Intellectual developmental disorder Muscular hypotonia Abnormal central motor function Gait difficulties Developmental delay/intellectual disability Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
1
|
No
|
Bradykinesia
Intellectual developmental disorder Delayed speech and language development Spasticity Gait difficulties Abnormal central motor function Global developmental delay Muscular hypotonia Cognitive impairment Developmental delay/intellectual disability Seizures Show more (+8) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
8
|
n.a.
|
Spasticity
Bradykinesia Global developmental delay Intellectual developmental disorder Abnormal central motor function Developmental delay/intellectual disability Gait difficulties Delayed speech and language development Cognitive impairment Muscular hypotonia Seizures Autonomic sign/sympt. Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
No
|
Developmental delay/intellectual disability
Gait difficulties Seizures Spasticity Bradykinesia Abnormal central motor function Delayed speech and language development Cognitive impairment Muscular hypotonia Microcephaly Global developmental delay Intellectual developmental disorder Show more (+9) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
No
|
Seizures
Microcephaly Bradykinesia Autonomic sign/sympt. Abnormal central motor function Muscular hypotonia Gait difficulties Intellectual developmental disorder Global developmental delay Spasticity Cognitive impairment Delayed speech and language development Developmental delay/intellectual disability Show more (+10) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Gait difficulties
Seizures Intellectual developmental disorder Abnormal central motor function Microcephaly Cognitive impairment Muscular hypotonia Bradykinesia Spasticity Delayed speech and language development Developmental delay/intellectual disability Global developmental delay Show more (+9) |
n.a.
|